I64V (p.Ile64Val) variant of TAFAZZIN (Q16635)
I64V (p.Ile64Val) in TAFAZZIN (Q16635) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
I64V (p.Ile64Val) variant details
- p.Ile64Val
- TOPMed rs1322365208
- gnomAD rs1322365208
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.564
- AlphaMissense 0.21
- MetaLR 0.85
- MetaSVM 0.71
- CADD 23.70
- PolyPhen-2 0.01
- SIFT 0.23
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available